SYNJ1, synaptojanin 1, 8867

N. diseases: 128; N. variants: 12
Disease: Generalized seizures ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0234533
Disease: Generalized seizures
Generalized seizures 		0.020 GeneticVariation disease BEFREE This is the first report of mutation in the C-terminal domain of Synaptojanin 1 protein causing mild juvenile PD with generalized seizures, cognitive impairment, and good respond to levodopa treatment. 30187305 2018
CUI: C0234533
Disease: Generalized seizures
Generalized seizures 		0.020 GeneticVariation disease BEFREE The Sac1 domain of SYNJ1 identified mutated in a family with early-onset progressive Parkinsonism with generalized seizures. 23804563 2013